"The diagnostic odyssey of the infrequent: Creutzfeldt-Jakob disease, apropos of a case."

Abstract

Creutzfeldt–Jakob disease (CJD) is a rare, spongiform encephalopathy characterized by rapidly progressive neurological deterioration and fatal outcomes. This report presents the case of a 39-year-old male who presented to the emergency department with behavioral disturbances, insomnia, and subacute-onset neuropsychiatric symptoms. He was admitted to a tertiary care center for evaluation and treatment, where his condition rapidly progressed to severe dementia, ataxia, apraxia, dysphagia and respiratory compromise, which eventually led to his death. Brain imaging revealed hyperintensities in the basal ganglia and cerebral cortex, these findings consistent with CJD. Cerebrospinal fluid analysis detected the PRNP M129M genotype and the E200K mutation, highly suggestive of a genetic form of CJD. This case highlights the importance of early recognition of CJD and the need to include it in the differential diagnosis of rapidly progressive dementia, even in younger patients.